Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren–Larsson syndrome
✍ Scribed by Haug, S; Braun-Falco, M
- Book ID
- 110039796
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 154 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0969-7128
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📜 SIMILAR VOLUMES
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi
## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th